List of variants in gene TANGO2 reported as likely pathogenic for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)	rs199801224	0.00006
NM_152906.7(TANGO2):c.605+1G>A	rs372949028	0.00005
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)	rs1162037663	0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)	rs752298579	0.00001
NM_152906.7(TANGO2):c.711-3C>G	rs367912276	0.00001
NM_152906.7(TANGO2):c.145+1G>T
NM_152906.7(TANGO2):c.280del (p.His94fs)
NM_152906.7(TANGO2):c.380+1G>A	rs1602255030
NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del)	rs2048401628
NM_152906.7(TANGO2):c.57-1G>C
NM_152906.7(TANGO2):c.59T>C (p.Leu20Pro)
NM_152906.7(TANGO2):c.634C>T (p.Gln212Ter)
NM_152906.7(TANGO2):c.648C>G (p.Tyr216Ter)

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